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Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_003018 Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA. ORF Sequence $172.26
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RefSeq Version NM_003018.3, 149999607
Length 989 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA.
Product pulmonary surfactant-associated protein C isoform 1 proprotein
Comment

Summary: This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010].


Transcript Variant: This variant (1) encodes the longer isoform (1).

RefSeq NP_003009.2
CDS 159..752
Misc Feature(1)102..104
Misc Feature(2)159..749
Misc Feature(3)159..749
Misc Feature(4)159..437
Misc Feature(5)438..749
Exon (1)1..200
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Exon (2)201..359
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Exon (3)360..482
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Exon (4)483..593
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Exon (5)594..770
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Exon (6)771..984
Gene:SFTPC
Gene Synonym:BRICD6; PSP-C; SFTP2; SMDP2; SP-C
Translation MDVGSKEVLMESPPDYSAAPRGRFGIPCCPVHLKRLLIVVVVVVLIVVVIVGALLMGLHM SQKHTEMVLEMSIGAPEAQQRLALSEHLVTTATFSIGSTGLVVYDYQQLLIAYKPAPGTC CYIMKIAPESIPSLEALTRKVHNFQMECSLQAKPAVPTSKLGQAEGRDAGSAPSGGDPAF LGMAVSTLCGEVPLYYI
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Position Chain Variation Link
25+dbSNP:
25+c, gdbSNP:28438700
59+a, gdbSNP:74639360
67+c, gdbSNP:79647630
68+c, tdbSNP:77253713
128+a, gdbSNP:200665803
141+c, tdbSNP:78201008
168+a, gdbSNP:201896861
182+c, gdbSNP:144603526
184+c, tdbSNP:11552815
200+a, gdbSNP:199905878
212+dbSNP:
212+a, gdbSNP:11552816
226+a, gdbSNP:75902455
252+c, tdbSNP:192391655
261+c, tdbSNP:199854076
273+g, tdbSNP:183533911
315+a, gdbSNP:200039720
334+a, gdbSNP:201567623
353+a, gdbSNP:188074517
354+a, gdbSNP:121917836
376+dbSNP:
376+c, tdbSNP:121917834
385+c, tdbSNP:201454136
386+c, gdbSNP:75413490
446+c, tdbSNP:79866047
476+a, cdbSNP:201933678
505+dbSNP:
505+a, cdbSNP:121918559
509+a, cdbSNP:35457216
522+a, tdbSNP:75609798
523+a, cdbSNP:77034580
525+a, gdbSNP:78029713
571+a, cdbSNP:4715
621+dbSNP:
621+c, gdbSNP:202145169
658+c, tdbSNP:34957318
692+a, gdbSNP:149606090
699+c, gdbSNP:201685063
715+a, gdbSNP:1124
721+a, tdbSNP:121917835
723+c, tdbSNP:76821562
729+a, gdbSNP:200839715
739+c, tdbSNP:121918560
749+c, tdbSNP:3203602
764+a, tdbSNP:200469074
780+dbSNP:
780+a, gdbSNP:1804453
788+a, gdbSNP:75518353
847..849+, gctdbSNP:71724867
866+a, gdbSNP:11552817
875+a, gdbSNP:7592
925+c, tdbSNP:1126931
926+a, g, tdbSNP:1139547
934+c, gdbSNP:8192331
968+c, tdbSNP:8192342
Gene SymbolSFTPC
Gene SynonymBRICD6; PSP-C; SFTP2; SMDP2; SP-C
Chromosome8
Locus Map8p21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001172357 Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA. Full Length $344.23
ORF Sequence $167.04
NM_001172410 Homo sapiens surfactant protein C (SFTPC), transcript variant 2, mRNA. Full Length $287.39
ORF Sequence $172.26
NM_003018 Homo sapiens surfactant protein C (SFTPC), transcript variant 1, mRNA. Full Length $286.81
ORF Sequence $172.26
Title The surfactant protein C mutation A116D alters cellular processing, stress tolerance, surfactant lipid composition, and immune cell activation .
Author Zarbock,R., Woischnik,M., Sparr,C., Thurm,T., Kern,S., Kaltenborn,E., Hector,A., Hartl,D., Liebisch,G., Schmitz,G. and Griese,M.
Journal BMC Pulm Med 12, 15 (2012)
Title Bone marrow mesenchymal stem cells can differentiate into type II alveolar epithelial cells in vitro .
Author Ma,N., Gai,H., Mei,J., Ding,F.B., Bao,C.R., Nguyen,D.M. and Zhong,H.
Journal Cell Biol. Int. 35 (12), 1261-1266 (2011)
Title Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred .
Author Ono,S., Tanaka,T., Ishida,M., Kinoshita,A., Fukuoka,J., Takaki,M., Sakamoto,N., Ishimatsu,Y., Kohno,S., Hayashi,T., Senba,M., Yasunami,M., Kubo,Y., Yoshida,L.M., Kubo,H., Ariyoshi,K., Yoshiura,K. and Morimoto,K.
Journal Eur. Respir. J. 38 (4), 861-869 (2011)
Title A nonaggregating surfactant protein C mutant is misdirected to early endosomes and disrupts phospholipid recycling .
Author Beers,M.F., Hawkins,A., Maguire,J.A., Kotorashvili,A., Zhao,M., Newitt,J.L., Ding,W., Russo,S., Guttentag,S., Gonzales,L. and Mulugeta,S.
Journal Traffic 12 (9), 1196-1210 (2011)
Title Influence of genetic variability at the surfactant proteins A and D in community-acquired pneumonia: a prospective, observational, genetic study .
Author Garcia-Laorden,M.I., Rodriguez de Castro,F., Sole-Violan,J., Rajas,O., Blanquer,J., Borderias,L., Aspa,J., Briones,M.L., Saavedra,P., Marcos-Ramos,J.A., Gonzalez-Quevedo,N., Sologuren,I., Herrera-Ramos,E., Ferrer,J.M., Rello,J. and Rodriguez-Gallego,C.
Journal Crit Care 15 (1), R57 (2011)
Title The pulmonary surfactant protein C (SP-C) precursor is a type II transmembrane protein .
Author Keller,A., Eistetter,H.R., Voss,T. and Schafer,K.P.
Journal Biochem. J. 277 (PT 2), 493-499 (1991)
Title Interaction between perdeuterated dimyristoylphosphatidylcholine and low molecular weight pulmonary surfactant protein SP-C .
Author Simatos,G.A., Forward,K.B., Morrow,M.R. and Keough,K.M.
Journal Biochemistry 29 (24), 5807-5814 (1990)
Title Hydrophobic surfactant-associated polypeptides: SP-C is a lipopeptide with two palmitoylated cysteine residues, whereas SP-B lacks covalently linked fatty acyl groups .
Author Curstedt,T., Johansson,J., Persson,P., Eklund,A., Robertson,B., Lowenadler,B. and Jornvall,H.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (8), 2985-2989 (1990)
Title Two SP-C genes encoding human pulmonary surfactant proteolipid .
Author Glasser,S.W., Korfhagen,T.R., Perme,C.M., Pilot-Matias,T.J., Kister,S.E. and Whitsett,J.A.
Journal J. Biol. Chem. 263 (21), 10326-10331 (1988)
Title cDNA, deduced polypeptide structure and chromosomal assignment of human pulmonary surfactant proteolipid, SPL(pVal) .
Author Glasser,S.W., Korfhagen,T.R., Weaver,T.E., Clark,J.C., Pilot-Matias,T., Meuth,J., Fox,J.L. and Whitsett,J.A.
Journal J. Biol. Chem. 263 (1), 9-12 (1988)

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